Varaico: Literature-Extracted Genetic Variants

Gene:CPT1A
Variant:p.E92V
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CPT1A

NM_001876.4:p.E92V

Associated Papers

Hepatic Inactivation of Carnitine Palmitoyltransferase 1a Lowers ApoB-Containing Lipoproteins in Mice.

Helsley RN et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

Hepatic Inactivation of Carnitine Palmitoyltransferase 1a Lowers Apolipoprotein B Containing Lipoproteins in Mice.

Helsley RN et al.

Biorxiv : the Preprint Server for Biology, 2024

In the context of the triple burden of malnutrition: A systematic review of gene-diet interactions and nutritional status.

Tan PY et al.

Critical Reviews in Food Science and Nutrition, 2024

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S3__MITNGS_S3_

Neutrophil trafficking to the site of infection requires Cpt1a-dependent fatty acid β-oxidation.

Pham L et al.

Communications Biology, 2022

Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.

Gan Y et al.

Italian Journal of Pediatrics, 2021

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

CPT1A-mediated Fat Oxidation, Mechanisms, and Therapeutic Potential.

Schlaepfer IR et al.

Endocrinology, 2020

Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.

Chu G et al.

Cancer Medicine, 2019

30977266 (PubMed )
Supplement: CAM4-8-1996-s001.pdf

A Metabolic Basis for Endothelial-to-Mesenchymal Transition.

Xiong J et al.

Molecular Cell, 2018

Genetic polymorphisms in carnitine palmitoyltransferase 1A gene are associated with variation in body composition and fasting lipid traits in Yup'ik Eskimos.

Lemas DJ et al.

Journal of Lipid Research, 2012

Genes and hepatitis C: susceptibility, fibrosis progression and response to treatment.

Romero-Gomez M et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2011

Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians.

Robitaille J et al.

Journal of Molecular Medicine (berlin, Germany), 2007

Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C.

Huang H et al.

Gastroenterology, 2006

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

Bennett MJ et al.

Molecular Genetics and Metabolism, 2004

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

Gobin S et al.

The Journal of Biological Chemistry, 2003

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

Gobin S et al.

Human Genetics, 2002

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

Brown NF et al.

Journal of Lipid Research, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."